Interventions include: • surgical treatment • hormone treatment • genetic selection and terminations • treatment for gender dysphoria • psychosocial support Surgical interventions can broadly be divided into
masculinizing surgical procedures intended to make genitalia more like those of typical XY-males, and
feminizing surgical procedures intended to make genitalia more like those of typical XX-females. There are multiple techniques or approaches for each procedure. Some of these are needed for variations in degrees of physical difference. Techniques and procedure have evolved over the last 60 years. Some of the different techniques have been devised to reduce complications associated with earlier techniques. There remains a lack of consensus on surgeries, and some clinicians still regard them as experimental.
Masculinizing surgical procedures Orchiopexy and hypospadias repair are the most common types of genital corrective surgery performed in infant boys. In a few parts of the world
5-alpha-reductase deficiency or defects of
testosterone synthesis, or even rarer forms of
intersex account for a significant portion of cases but these are rare in North America and Europe. Masculinizing surgery for completely virilized individuals with XX sex chromosomes and
CAH is even rarer. An early procedure was performed by London surgeon Thomas Brand in 1779.
Orchiopexy for repair of undescended
testes (
cryptorchidism) is the second most common surgery performed on infant male genitalia (after
circumcision). The surgeon moves one or both testes, with blood vessels, from an
abdominal or
inguinal position to the
scrotum. If the inguinal canal is open it must be closed to prevent
hernia. Potential surgical problems include maintaining the blood supply. If vessels cannot be stretched into the scrotum, or are separated and cannot be reconnected, a testis will die and atrophy.
Hypospadias repair may be a single-stage procedure if the hypospadias is of the first or second degree (
urethral opening on glans or shaft respectively) and the
penis is otherwise normal. Surgery for third-degree hypospadias (urethral opening on
perineum or in urogenital opening) is more challenging, may be done in stages, and has a significant rate of complications and unsatisfactory outcomes. Potential surgical problems: For severe hypospadias (3rd degree, on perineum) constructing a urethral tube the length of the phallus is not always successful, leaving an opening (a "fistula") proximal to the intended urethral opening. Sometimes a second operation is successful, but some boys and men have been left with chronic problems with fistulas, scarring and contractures that make urination or erections uncomfortable, and loss of sensation. It is increasingly recognized that long-term outcomes are poor.
Epispadias repair may involve comprehensive surgical repair of the genito-urinary area, usually during the first seven years of life, including reconstruction of the urethra, closure of the penile shaft and mobilisation of the corpora.
Urogenital closure closure of any midline opening at the base of the penis. In severe
undervirilization a boy may have a "pseudovaginal pouch" or a single urogenital opening in the midline of the
perineum. Potential surgical problems: The most complicated aspect of closure involves moving the urethra to the phallus if it is not already there (i.e., repairing a perineal hypospadias). Fistulas, scarring, and loss of sensation are the main risks.
Gonadectomy (also referred to as "orchiectomy") removal of the gonads. This is done in three circumstances. (1) If the
gonads are
dysgenetic testes or streak gonads and at least some of the boy's cells have a
Y chromosome, the gonads or streaks must be removed because they are nonfunctional but have a relatively high risk of developing
gonadoblastoma. (2) In rare instances when an XX child has completely virilizing
congenital adrenal hyperplasia (Prader stage 5), the
ovaries can be removed before puberty to stop
breast development and/or
menstruation. (3) Gonadectomy can be performed in the equally rare instance of a child with
true hermaphroditism virilized enough to raise as male, in which ovaries or
ovotestes can be removed. A lifetime of hormone replacement will be required, to avoid
osteoporosis and enable sexual functioning.
Chordee release is the cutting of ventral penile skin and connective tissue to free and straighten the penis. A mild chordee, manifest as a well-formed penis "bent" downward by subcutaneous connective tissue, may be an isolated birth defect easily repaired by releasing some of the inelastic connective tissue on the ventral side of the shaft. In a complete chordee the phallus is "tethered" downward to the perineum by skin. A more severe chordee is often accompanied by a hypospadias and sometimes by severe undervirilization: a perineal "pseudovaginal pouch" and bifid ("split") scrotum with an undersized penis. This combination, referred to as
pseudovaginal perineoscrotal hypospadias, is in the spectrum of ambiguous genitalia due to a number of conditions. Scarring and contracture are occasional complications, but most unsatisfactory outcomes occur when a severe hypospadias needs to be repaired as well. Long-term complications can include fistulas between
colon or upper
rectum and skin or other cavities, or between urethra and perineum. Loss of sensation.
Cloacal repair is among the most complex of the surgeries described here.
Bladder exstrophy or more severe
cloacal exstrophy is a major birth defect involving inadequate closure and incomplete midline fusion of multiple pelvic and perineal organs as well as the front of the
pelvis and lower abdominal wall. The penis and scrotum are often widely
bifid (the two embryonic parts unjoined). The penis often cannot be salvaged, although the testes can be retained. Repair may involve closure of the bladder, closure of the anterior abdominal wall,
colostomy (temporary or permanent) with reconstruction of the rectum. If the halves of the phallus cannot be joined, they may be removed. The smallest defect in this spectrum is an
epispadias. Surgical repair for this is primarily a phalloplasty. Potential surgical problems: Surgery for the more severe degrees of cloacal exstrophy is extensive and usually multistage. A variety of potential problems and complications can occur, including need for long-term colostomy or
vesicostomy. In many cases a functional penis cannot be created. Scarring is often extensive and the lower torso severely disfigured even with fairly good outcomes.
Phalloplasty is a general term for any reconstruction of the penis itself, especially for more unusual types of injuries, deformities, or birth defects. The principal difficulty is that erectile tissue is not easily constructed and this limits the surgeon's ability to make more than minor size changes. Construction of a narrow tube lined with mucosa (a urethra) is a similar challenge. Minor revisions of the skin are rarely followed by problems. More complicated reconstruction may result in scarring and contracture, which can distort the shape or curvature of the penis, or interfere with erections or make them painful.
Hysterectomy is removal of a
uterus. It is rare that a uterus or
Müllerian duct derivatives would need to be removed from a child being raised as a boy: see
persistent Müllerian duct syndrome. The most common scenario is accidental discovery of persistent Müllerian derivatives or a small uterus during abdominal surgery of a normal boy for
cryptorchidism,
appendectomy, or bowel disease. Removal would not involve genital surgery. A rarer indication would be that of a completely virilized XX child with
congenital adrenal hyperplasia (Prader stage 5) being raised as a male;
ovaries and uterus must be removed to prevent
breast development and
menstruation by early adolescence. Risks are simply those of abdominal surgery.
Testicular prostheses are saline-filled plastic ovoids implanted in the scrotum. They have no function except to provide the appearance and feel of testes. Several sizes are available, but most are implanted in adolescence to avoid repeated procedures to implant larger sizes at puberty. Prostheses made of
silastic are no longer available due to safety and perception-of-safety concerns. Potential surgical problems: Foreign body reactions, rarely with infection or erosion of scrotal skin, are minimal but constitute the most significant complication.
Penile augmentation surgery is surgery intended to enlarge a small penis. Early attempts in the 1950s and 1960s involved constructing a tube of non-erectile flesh extending a small penis but the penis did not function. In recent years a small number of urologists have been offering an augmentation procedure that involves moving outward some of the buried components of the corpora so that the penis protrudes more. The girth is augmented with transplantation of the patient's fat. This procedure is designed to preserve erectile and sexual function without surgically altering the urethra. This type of surgery is not performed on children and primarily produces a small increase in the size of a normal penis, but would be less likely to produce a major functional change in a severe
micropenis. Potential surgical problems include reabsorption of the fat, scarring resulting in interference with erectile function, and issues with physical sensation.
Concealed penis where a normal penis is buried in suprapubic fat. In most cases, when the fat is depressed with the fingers, the penis is seen to be of normal size. This is common in overweight boys before the penile growth of puberty. Surgical techniques have been devised to improve it. The most common problems post-surgery are recurrence with continued weight gain and scarring.
Feminizing surgical procedures In the last 50 years, the following procedures were most commonly performed to make the genitalia more typically female: virilization due to
congenital adrenal hyperplasia; genital variations due, for example, to
cloacal exstrophy; genital variations in infants with XY or mixed chromosomes to be raised as girls, such as
gonadal dysgenesis, partial and complete
androgen insensitivity syndrome,
micropenis, cloacal and
bladder exstrophy. In the 21st century, feminizing surgery to support reassignment of XY infants with non-ambiguous micropenis has been largely discontinued, and surgical reassignment of XY infants with exstrophy or other significant variations or injuries is diminishing. See
history of intersex surgery. in 1963
Clitorectomy amputation or removal of most of the
clitoris, including
glans, erectile tissue, and
nerves. This procedure was the most common clitoral surgery performed prior to 1970, but was largely abandoned by 1980 because it usually resulted in loss of clitoral sensation. Potential surgical problems: The primary effect of this surgery is a drastic reduction in ability to experience
orgasm. The appearance is not very normal. Regrowth of unwanted erectile tissue has sometimes presented problems.
Clitoroplasty, like phalloplasty, is a term that encompasses any surgical reconstruction of the clitoris, such as removal of the corpora. Clitoral recession and reduction can both be referred to as clitoroplasty. Potential surgical problems: Major complications can include scarring, contractures, loss of sensation, loss of capacity for orgasm, and unsatisfactory appearance.
Clitoral recession involves the repositioning of the erectile body and glans of the clitoris farther back under the symphysis pubis and/or skin of the preputium and mons. This was commonly done from the 1970s through the 1980s to reduce protrusion without sacrificing sensation. Outcomes were often unsatisfactory, and it fell into disfavor in the last 15 years. Potential surgical problems: Unfortunately the subsequent sensations were not always pleasant, and erection could be painful. Adults who had a clitoral recession in early childhood often report reduced capacity for enjoyment of sexual intercourse, though similar women who had not had surgery also report a high rate of sexual dysfunction. Clitoral reduction is rarely done except in combination with vaginoplasty when substantial virilization is present. Potential problems: The degree to which the goal of preserving sexual sensations is attained is a subject of controversy regarding the necessity of such treatments, and lack of firm evidence of good outcomes.
Vaginoplasty, the construction or reconstruction of a
vagina, can be fairly simple or quite complex, depending on the initial anatomy. If a normal internal uterus, cervix and upper vagina (the
Müllerian derivatives) exist, and the outer virilization is modest, surgery involves separating the fused labia and widening the vaginal introitus. With greater degrees of virilization, the major challenge of the procedure is to provide a passage connecting the outer vaginal opening to the cervix which will stay wide enough to allow coitus. XY girls or women with partial
androgen insensitivity syndrome will have a blind vaginal pouch of varying degrees of depth. Sometimes this can be dilated to a usable depth. Sometimes surgery is performed to deepen it. The most challenging surgery with the highest complication rate is construction of an entirely new vagina (a "neovagina"). The most common instance of this is when a child will be assigned and raised as a female despite complete virilization, as with Prader 5
CAH, or (in the past) when a genetic male infant with a severely defective penis was
reassigned as a female. One method is to use a segment of colon, which provides a lubricated mucosal surface as a substitute for the vaginal mucosa. Another is to line the new vagina with a skin graft. Potential surgical problems: Stenosis (narrowing) of the constructed vagina is the most common long-term complication and the chief reason that a revision may be required when a girl is older. When a neovagina is made from a segment of bowel, it tends to leak mucus; when made with a skin graft, lubrication is necessary. Less common complications include fistulas, uncomfortable scarring, and problems with urinary continence.
Gonadectomy is removal of the gonads. If the
gonads are
dysgenetic testes or streak gonads and at least some of the cells have a
Y chromosome, the gonads or streaks must be removed because they are nonfunctional but have a relatively high risk of developing
gonadoblastoma. If the gonads are relatively "normal" testes, but the child is to be assigned and raised as female, (e.g., for intersex conditions with severe undervirilization, or major malformations involving an absent or unsalvageable penis) they must be removed before puberty to prevent virilization from rising testosterone. Testes in
androgen insensitivity are a special case: if there is any degree of responsiveness to testosterone, they should be removed before puberty. On the other hand, if androgen insensitivity is complete, the testes may be left to produce estradiol (via testosterone) to induce breast development, but there is a slowly increasing risk of cancer in adult life. Streak gonads without a Y chromosome cell line need not be removed but will not function. Finally, the gonads in
true hermaphroditism must be directly examined; atypical gonads with Y line or potential testicular function should be removed but in rare instances a surgeon may try to preserve the ovarian part of an ovotestis. Potential surgical problems: A lifetime of hormone replacement will be required, to avoid
osteoporosis and enable sexual functioning.
Cloacal exstrophy and
bladder exstrophy repair is needed regardless of the
sex of assignment or
rearing. Simple bladder exstrophy in a genetic female does not usually involve the
vagina. Cloacal exstrophy in a genetic female usually requires major surgical reconstruction of the entire
perineum, including
bladder,
clitoris, symphysis pubis, and both the vaginal introitus and
urethra. However, the
uterus and
ovaries are normally formed. Severe bladder exstrophy or cloacal exstrophy in genetic males often renders the phallus widely split, small, and unsalvageable. The scrotum is also widely split, though testes themselves are usually normal. From the 1960s until the 1990s, many of these infants were assigned and raised as females, with fashioning of a vagina and gonadectomy as part of the perineal reconstruction.
Hormone treatment There is widespread evidence of
prenatal testing and hormone treatment to prevent intersex traits. In 1990, a paper by Heino Meyer-Bahlburg titled
Will Prenatal Hormone Treatment Prevent Homosexuality? was published in the Journal of Child and Adolescent Psychopharmacology. It examined the use of "prenatal hormone screening or treatment for the prevention of homosexuality" using research conducted on fetuses with
congenital adrenal hyperplasia (CAH). Dreger, Feder, and
Tamar-Mattis describe how later research constructs "low interest in babies and men – and even interest in what they consider to be men's occupations and games – as "abnormal", and potentially preventable with prenatal dex [amethasone]". There is widespread evidence of
pregnancy terminations arising from prenatal testing, as well prenatal hormone treatment to prevent intersex traits. In April 2014,
Organisation Intersex International Australia made a submission on genetic selection via
preimplantation genetic diagnosis to the
National Health and Medical Research Council recommending that deselection of embryos and fetuses on grounds of intersex status should not be permitted. It quoted research by Professors
Morgan Holmes, Jeff Nisker, associate professor
Georgiann Davis, and by Jason Behrmann and Vardit Ravitsky. It quotes research showing
pregnancy termination rates of up to 88% in
47,XXY even while the
World Health Organization describes the trait as "compatible with normal life expectancy", and "often undiagnosed". Behrmann and Ravitsky find social concepts of sex, gender and sexual orientation to be "intertwined on many levels. Parental choice against intersex may thus conceal biases against same-sex attractedness and gender nonconformity."
Gender dysphoria The
DSM-5 included a change from using gender identity disorder to
gender dysphoria. This revised code now specifically includes intersex people who do not identify with their sex assigned at birth and experience clinically significant distress or impairment, using the language of
disorders of sex development. This move was criticized by intersex advocacy groups in Australia and
New Zealand. When intersex individuals receive non-consensual surgery at birth, this can lead to life-long trauma and feelings of gender dysphoria. This is because "gender-normalizing" surgery is non-accepting towards intersex individual by forcing them to conform to a binary. There are changing practices surrounding intersex surgery of infants with more hospitals or medical professionals discouraging intersex surgery when the child cannot make the decision themselves. However, there have not been any federal or local policies in the United States surrounding non-consensual intersex surgery on infants or children.
Psychosocial support A 2006 clinician "Consensus Statement on Intersex Disorders and Their Management" attempted to prioritize psychosocial support for children and families, but it also supports surgical intervention with psychosocial rationales such as "minimizing family concern and distress" and "mitigating the risks of stigmatization and gender-identity confusion". In 2012, the Swiss National Advisory Commission on Biomedical Ethics argued strongly in favour of improved psychosocial support, saying: A joint international statement by
intersex community organizations published in 2013 sought, amongst other demands: ==Outcomes and evidence==